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Diagnosis of genetic cardiac disease (Panel)

  • Service de génétique clinique chromosomique et moléculaire
  • Pôle de biologie
  • CHU de Saint-Etienne - Hôpital Nord
  • Avenue Albert Raimond
  • 42270 SAINT-PRIEST-EN-JAREZ
  • FRANCE
  • Director of laboratory : Dr Renaud L TOURAINE
  • More information
  • Phone : 33 (0)4 77 82 81 16
  • Additional Phone : -
  • Fax : 33 (0)4 77 82 82 59
  • Website
  • Contact
Last update: April 2023

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques
Deletion / Duplication analysis
PCR based techniques
Deletion / Duplication analysis
Array based techniques

List of diseases and genes

List of diseases tested (35)
22q11.2 deletion syndrome
ATTRV122I amyloidosis
ATTRV30M amyloidosis
Andersen-Tawil syndrome
Atrial septal defect-atrioventricular conduction defects syndrome
Atrial standstill
Brugada syndrome
Carvajal syndrome
Catecholaminergic polymorphic ventricular tachycardia
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Ebstein malformation of the tricuspid valve
Familial atrial fibrillation
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated dilated cardiomyopathy
Familial isolated restrictive cardiomyopathy
Familial progressive cardiac conduction defect
Familial short QT syndrome
Familial sick sinus syndrome
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Glycogen storage disease due to LAMP-2 deficiency
Heart-hand syndrome, Slovenian type
Holt-Oram syndrome
Idiopathic ventricular fibrillation, non Brugada type
Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
Jervell and Lange-Nielsen syndrome
LMNA-related cardiocutaneous progeria syndrome
Left ventricular noncompaction
Naxos disease
Noonan syndrome
Noonan syndrome with multiple lentigines
Romano-Ward syndrome
Tetralogy of Fallot
Timothy syndrome
List of genes tested (including panels) (1)
ABCC9

Quality management

EQA  EQA

EQA scheme(s) organized by EMQN

Cardiac genetics - Hypertrophic cardiomyopathies
2021
Cardiac genetics - arrhythmias
2021
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.